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CODAS syndrome

ORPHA:1458 · Malformation syndrome · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(20)

  • Abnormal dental enamel morphologyHP:0000682
  • Abnormal dental morphologyHP:0006482
  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal vertebral body morphologyHP:0003312
  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • CataractHP:0000518
  • Coronal cleft vertebraeHP:0003417
  • Crumpled earHP:0009901
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • Global developmental delayHP:0001263
  • Midline defect of the noseHP:0004122
  • Overfolded helixHP:0000396
  • Short metacarpalHP:0010049
  • Short noseHP:0003196
  • Short statureHP:0004322

Frequent (79-30%)(7)

  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Congenital hip dislocationHP:0001374
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(6)

  • Abnormality of the larynxHP:0001600
  • Extrahepatic biliary duct atresiaHP:0005242
  • HydroureterHP:0000072
  • NystagmusHP:0000639
  • StrabismusHP:0000486
  • Ventricular septal defectHP:0001629